Y92* (p.Tyr92Ter) variant of GJA1 (Gap junction alpha-1 protein)
Y92* (p.Tyr92Ter) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Y92* (p.Tyr92Ter) variant details
- p.Tyr92Ter
- ExAC rs759231549
- gnomAD rs759231549
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available